ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.1382G>A (p.Arg461His)

gnomAD frequency: 0.00001  dbSNP: rs767398783
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000799403 SCV000939063 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 461 of the CAPN3 protein (p.Arg461His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs767398783, ExAC 0.006%). This variant has not been reported in the literature in individuals affected with CAPN3-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Natera, Inc. RCV000799403 SCV001454341 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A 2020-09-16 no assertion criteria provided clinical testing

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